Incidental Mutation 'R1505:Slc25a11'
| ID |
169127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a11
|
| Ensembl Gene |
ENSMUSG00000014606 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 |
| Synonyms |
2310022P18Rik, 2oxoc |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
130 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70537650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 13
(D13E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000136383]
[ENSMUST00000139638]
[ENSMUST00000141695]
[ENSMUST00000152160]
|
| AlphaFold |
Q9CR62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014750
AA Change: D13E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: D13E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
18 |
112 |
1.3e-22 |
PFAM |
|
Pfam:Mito_carr
|
115 |
213 |
2.6e-19 |
PFAM |
|
Pfam:Mito_carr
|
216 |
311 |
5.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037534
|
| SMART Domains |
Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:PA
|
53 |
150 |
1.4e-14 |
PFAM |
|
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
|
RING
|
230 |
271 |
2.65e-9 |
SMART |
|
low complexity region
|
278 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055184
|
| SMART Domains |
Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
51 |
1.66e-1 |
SMART |
|
LRR
|
70 |
91 |
2.54e2 |
SMART |
|
LRR
|
92 |
114 |
9.96e-1 |
SMART |
|
LRR_TYP
|
115 |
138 |
1.56e-2 |
SMART |
|
LRR_TYP
|
139 |
162 |
1.47e-3 |
SMART |
|
LRR
|
163 |
186 |
1.89e-1 |
SMART |
|
LRR
|
187 |
210 |
8.09e-1 |
SMART |
|
LRRCT
|
221 |
281 |
2.53e-12 |
SMART |
|
low complexity region
|
403 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
PDB:2BP3|T
|
680 |
701 |
2e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136383
|
| SMART Domains |
Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139638
|
| SMART Domains |
Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
80 |
7.4e-17 |
PFAM |
|
Pfam:Mito_carr
|
83 |
181 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141695
|
| SMART Domains |
Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152160
|
| SMART Domains |
Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
|
| Other mutations in Slc25a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03087:Slc25a11
|
APN |
11 |
70,536,033 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03348:Slc25a11
|
APN |
11 |
70,536,170 (GRCm39) |
unclassified |
probably benign |
|
|
R0448:Slc25a11
|
UTSW |
11 |
70,536,405 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1368:Slc25a11
|
UTSW |
11 |
70,536,352 (GRCm39) |
splice site |
probably null |
|
|
R1781:Slc25a11
|
UTSW |
11 |
70,535,651 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1970:Slc25a11
|
UTSW |
11 |
70,536,999 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2508:Slc25a11
|
UTSW |
11 |
70,536,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4397:Slc25a11
|
UTSW |
11 |
70,535,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4747:Slc25a11
|
UTSW |
11 |
70,536,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5177:Slc25a11
|
UTSW |
11 |
70,536,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Slc25a11
|
UTSW |
11 |
70,536,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Slc25a11
|
UTSW |
11 |
70,537,011 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5510:Slc25a11
|
UTSW |
11 |
70,536,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Slc25a11
|
UTSW |
11 |
70,536,245 (GRCm39) |
nonsense |
probably null |
|
|
R5771:Slc25a11
|
UTSW |
11 |
70,537,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7287:Slc25a11
|
UTSW |
11 |
70,536,181 (GRCm39) |
missense |
probably benign |
|
|
R7799:Slc25a11
|
UTSW |
11 |
70,536,005 (GRCm39) |
missense |
probably benign |
|
|
R7860:Slc25a11
|
UTSW |
11 |
70,536,005 (GRCm39) |
missense |
probably benign |
|
|
R8694:Slc25a11
|
UTSW |
11 |
70,535,630 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Slc25a11
|
UTSW |
11 |
70,535,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCGGCTCAATTTACTGCAAC -3'
(R):5'- AGGGTAGCTTCCTAAATCGGCCAC -3'
Sequencing Primer
(F):5'- GCTCAATTTACTGCAACACACC -3'
(R):5'- ATCGTGCATCTTAGCCCCG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation